Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

(2015) C. Semsarian et al.   EUROPEAN HEART JOURNAL

Autonomic Control of Heart Rate and QT Interval Variability Influences Arrhythmic Risk in Long QT Syndrome Type 1

(2015) Alberto Porta et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Association of prone position with sudden unexpected death in epilepsy

(2015) J. A. Liebenthal et al.   NEUROLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome

(2014) Christopher A. Reid et al.   BRAIN

Sudden unexpected death in epilepsy: Assessing the public health burden

(2014) David J. Thurman et al.   EPILEPSIA

Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young

(2014) Richard D. Bagnall et al.   HEART RHYTHM

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

Preliminary Functional Assessment and Classification ofDEPDC5Variants Associated with Focal Epilepsy

(2014) Melissa van Kranenburg et al.   HUMAN MUTATION

Genotype phenotype associations across the voltage-gated sodium channel family

(2014) Andreas Brunklaus et al.   JOURNAL OF MEDICAL GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

(2014) R. D. Bagnall et al.   NEUROLOGY

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

(2013) Tara L. Klassen et al.   EPILEPSIA

Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study

(2013) Philippe Ryvlin et al.   LANCET NEUROLOGY

An update to MitoTool: Using a new scoring system for faster mtDNA haplogroup determination

(2013) Long Fan et al.   MITOCHONDRION

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Mitochondrial Dysfunction in Epilepsy

(2013) Divya S. Khurana et al.   Seminars in Pediatric Neurology

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden Cardiac Death and Genetic Ion Channelopathies

(2012) Carlo Napolitano et al.   CIRCULATION

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

(2012) M. G. D. Bates et al.   EUROPEAN HEART JOURNAL

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

The long-term risk of premature mortality in people with epilepsy

(2011) A. Neligan et al.   BRAIN

Seizure-related cardiac repolarization abnormalities are associated with ictal hypoxemia

(2011) Masud Seyal et al.   EPILEPSIA

Unifying the definitions of sudden unexpected death in epilepsy

(2011) Lina Nashef et al.   EPILEPSIA

Electrical and autonomic cardiac function in patients with Dravet syndrome

(2011) Angelica B. Delogu et al.   EPILEPSIA

Combined analysis of risk factors for SUDEP

(2011) Dale C. Hesdorffer et al.   EPILEPSIA

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

(2010) D. E. Crompton et al.   BRAIN

Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases

(2010) Emily Tu et al.   BRAIN PATHOLOGY

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

(2010) Jonathan R. Skinner et al.   HEART RHYTHM

Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy

(2010) E. Glasscock et al.   JOURNAL OF NEUROSCIENCE

Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome

(2010) Marta Tomás et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Enhanced QT shortening and persistent tachycardia after generalized seizures

(2010) R. Surges et al.   NEUROLOGY

Long-Term Mortality in Childhood-Onset Epilepsy

(2010) Matti Sillanpää et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Genetic variation in NOS1AP is associated with sudden cardiac death: evidence from the Rotterdam Study

(2009) M. Eijgelsheim et al.   HUMAN MOLECULAR GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia

(2009) Stephen J Huffaker et al.   NATURE MEDICINE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Arrhythmia in Heart and Brain: KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death

(2009) A. M. Goldman et al.   Science Translational Medicine

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE